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Journal of Undergraduate Research

Keywords

PPP3R1, MAPT, Alzheimer's Disease, AD

College

Life Sciences

Department

Biology

Abstract

Alzheimer’s disease (AD) is the most common neurodegenerative disease, affecting more than 4.5 million people in the US. Genetic studies of AD have previously identified mutations in three genes (APP, PSEN1 and PSEN2) and polymorphism in APOE as risk factors. These findings have led to a better understanding of the underlying disease mechanisms. However, half of all AD cases have no known genetic risk factors for disease. Most studies are designed to identify variants associated with risk or age at onset, but rarely cover other important facets of AD, such as disease progression or duration. Previously, Cruchaga et al. identified several single-nucleotide polymorphisms (SNPs), located in the genes encoding the regulatory subunit of the protein phosphatase 2B (PPP3R1, rs1868402), and the microtubule-associated protein tau (MAPT, rs3785883) genes, that are associated with CSF tau levels. They further found that rs1868402 and rs3785883 were associated with an increased rate of progression of AD. In this study we attempted to support these associations by genotyping these two SNPs in an independent sample of 92 Alzheimer’s disease cases from the Dementia Progression Study and testing them for association with the rate of progression of Alzheimer’s disease as measured by the Clinical Dementia Rating sum of boxes (CDR-SB).

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